ClinVar Miner

List of variants studied for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 756
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 9q33.3(chr9:129414011-129460757)
GRCh37/hg19 9q34.11(chr9:130335766-130517907)
NC_000002.11:g.(?_166847704)_(166930181_?)dup
NC_000002.11:g.(?_167055131)_(167168316_?)dup
NC_000009.11:g.130248090_130388197del140108
NM_000806.5(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_000806.5(GABRA1):c.751G>A (p.Gly251Ser) rs587777307
NM_000806.5(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_000806.5(GABRA1):c.902G>A (p.Arg301Lys) rs863225292
NM_000806.5(GABRA1):c.917A>C (p.Lys306Thr) rs587777309
NM_001127644.2(GABRA1):c.1200del (p.Lys401fs) rs879253748
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His) rs886039373
NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile) rs1060499553
NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) rs866861998
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) rs769743354
NM_001165963.1(SCN1A):c.1663_2176del
NM_001165963.1(SCN1A):c.2044_6030del
NM_001165963.1(SCN1A):c.384_1662dup
NM_001165963.1(SCN1A):c.384_964del
NM_001165963.1(SCN1A):c.4285_4476del
NM_001165963.1(SCN1A):c.4338_6030del
NM_001165963.2(SCN1A):c.2947del (p.Val983Serfs) rs794726715
NM_001330723.2(SNX27):c.1046C>A (p.Ala349Asp)
NM_001330723.2(SNX27):c.1118A>G (p.Asn373Ser)
NM_001330723.2(SNX27):c.1122C>T (p.Asp374=) rs1158496817
NM_001330723.2(SNX27):c.1147C>G (p.Gln383Glu)
NM_001330723.2(SNX27):c.1149+10T>C rs368706118
NM_001330723.2(SNX27):c.1155C>T (p.Val385=) rs115166911
NM_001330723.2(SNX27):c.1156G>C (p.Asp386His) rs138859961
NM_001330723.2(SNX27):c.1170A>G (p.Lys390=) rs916854524
NM_001330723.2(SNX27):c.1181A>C (p.Lys394Thr) rs1558073082
NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser) rs1354158738
NM_001330723.2(SNX27):c.1218C>G (p.Tyr406Ter) rs201966711
NM_001330723.2(SNX27):c.1221A>G (p.Glu407=) rs1553264889
NM_001330723.2(SNX27):c.1237A>G (p.Met413Val) rs144336311
NM_001330723.2(SNX27):c.1246A>G (p.Asn416Asp) rs1388451146
NM_001330723.2(SNX27):c.1258A>T (p.Thr420Ser) rs1399483139
NM_001330723.2(SNX27):c.1274A>G (p.Asn425Ser)
NM_001330723.2(SNX27):c.1287T>C (p.Phe429=) rs1230597000
NM_001330723.2(SNX27):c.1310G>C (p.Arg437Thr) rs1558078260
NM_001330723.2(SNX27):c.1324G>A (p.Val442Ile) rs149937418
NM_001330723.2(SNX27):c.1329C>T (p.Ile443=) rs193058770
NM_001330723.2(SNX27):c.1346C>T (p.Thr449Met)
NM_001330723.2(SNX27):c.1365C>T (p.Ala455=) rs555284794
NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu) rs200106732
NM_001330723.2(SNX27):c.1465G>A (p.Glu489Lys) rs1400115897
NM_001330723.2(SNX27):c.1493G>A (p.Arg498Gln) rs1558078709
NM_001330723.2(SNX27):c.1517A>G (p.Tyr506Cys) rs1553266278
NM_001330723.2(SNX27):c.18G>A (p.Gly6=) rs551180149
NM_001330723.2(SNX27):c.234G>A (p.Leu78=) rs763585979
NM_001330723.2(SNX27):c.238C>G (p.His80Asp)
NM_001330723.2(SNX27):c.259G>T (p.Gly87Trp)
NM_001330723.2(SNX27):c.342C>T (p.His114=) rs777998061
NM_001330723.2(SNX27):c.388T>A (p.Leu130Met)
NM_001330723.2(SNX27):c.41C>T (p.Pro14Leu) rs965328686
NM_001330723.2(SNX27):c.422A>T (p.Asp141Val)
NM_001330723.2(SNX27):c.456A>G (p.Gln152=) rs774725804
NM_001330723.2(SNX27):c.543+6T>C
NM_001330723.2(SNX27):c.575T>A (p.Leu192Gln) rs1208840156
NM_001330723.2(SNX27):c.595G>C (p.Glu199Gln)
NM_001330723.2(SNX27):c.60_62CGG[5] (p.Gly25dup) rs567208173
NM_001330723.2(SNX27):c.60_62CGG[6] (p.Gly24_Gly25dup) rs567208173
NM_001330723.2(SNX27):c.676T>A (p.Ser226Thr) rs748735835
NM_001330723.2(SNX27):c.69C>T (p.Gly23=)
NM_001330723.2(SNX27):c.73G>T (p.Gly25Trp) rs1558028277
NM_001330723.2(SNX27):c.772A>G (p.Met258Val) rs146222009
NM_001330723.2(SNX27):c.786A>G (p.Leu262=) rs745510590
NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn)
NM_001330723.2(SNX27):c.816G>A (p.Val272=) rs552371418
NM_001330723.2(SNX27):c.822C>T (p.Asp274=) rs771189015
NM_001330723.2(SNX27):c.848A>G (p.Asp283Gly) rs776237861
NM_001330723.2(SNX27):c.857C>T (p.Thr286Met)
NM_001330723.2(SNX27):c.862A>G (p.Thr288Ala)
NM_001330723.2(SNX27):c.883A>G (p.Ser295Gly) rs754578785
NM_001330723.2(SNX27):c.908C>T (p.Ala303Val)
NM_001330723.2(SNX27):c.913G>A (p.Ala305Thr)
NM_001330723.2(SNX27):c.938C>T (p.Thr313Met) rs140922236
NM_001330723.2(SNX27):c.942A>G (p.Thr314=) rs1553261783
NM_001330723.2(SNX27):c.967G>A (p.Val323Met) rs61762678
NM_001330723.2(SNX27):c.984T>C (p.Phe328=) rs150091333
NM_002977.3(SCN9A):c.*1013C>T rs16851754
NM_002977.3(SCN9A):c.*1014G>A rs200393413
NM_002977.3(SCN9A):c.*1118_*1119insCA rs140616949
NM_002977.3(SCN9A):c.*1184T>G rs11902920
NM_002977.3(SCN9A):c.*124A>G rs201137748
NM_002977.3(SCN9A):c.*125C>T rs200465050
NM_002977.3(SCN9A):c.*129C>T rs16851759
NM_002977.3(SCN9A):c.*1357C>T rs200338267
NM_002977.3(SCN9A):c.*1434dup rs199505193
NM_002977.3(SCN9A):c.*1492C>G rs73017542
NM_002977.3(SCN9A):c.*1605T>C rs199848927
NM_002977.3(SCN9A):c.*1605_*1606del rs200091138
NM_002977.3(SCN9A):c.*1605del rs148459420
NM_002977.3(SCN9A):c.*165_*167dup rs886055049
NM_002977.3(SCN9A):c.*1660G>A rs16851753
NM_002977.3(SCN9A):c.*1770A>C rs200353065
NM_002977.3(SCN9A):c.*1774G>A rs114843828
NM_002977.3(SCN9A):c.*1796C>T rs16851751
NM_002977.3(SCN9A):c.*18A>G rs150401869
NM_002977.3(SCN9A):c.*1960_*1962dup rs202073550
NM_002977.3(SCN9A):c.*204G>A rs111510277
NM_002977.3(SCN9A):c.*2078C>T rs548072061
NM_002977.3(SCN9A):c.*2136C>G rs77050817
NM_002977.3(SCN9A):c.*2146G>C rs1062844
NM_002977.3(SCN9A):c.*2154C>G rs17804037
NM_002977.3(SCN9A):c.*2155G>A rs77565541
NM_002977.3(SCN9A):c.*217G>A rs200625860
NM_002977.3(SCN9A):c.*2191G>A rs201184093
NM_002977.3(SCN9A):c.*2212T>C rs200750861
NM_002977.3(SCN9A):c.*2222T>C rs199958892
NM_002977.3(SCN9A):c.*2226T>G rs141310425
NM_002977.3(SCN9A):c.*2228G>T rs200790957
NM_002977.3(SCN9A):c.*226A>C rs886055048
NM_002977.3(SCN9A):c.*2297A>T rs75345520
NM_002977.3(SCN9A):c.*2312A>T rs185580193
NM_002977.3(SCN9A):c.*2323G>T rs142172527
NM_002977.3(SCN9A):c.*2344C>T rs200962814
NM_002977.3(SCN9A):c.*235T>C rs140553451
NM_002977.3(SCN9A):c.*237C>G rs16851755
NM_002977.3(SCN9A):c.*244_*247dup rs143461219
NM_002977.3(SCN9A):c.*2540C>T rs58249489
NM_002977.3(SCN9A):c.*2616_*2626del rs145255931
NM_002977.3(SCN9A):c.*2640G>A rs13396526
NM_002977.3(SCN9A):c.*2662G>A rs149873320
NM_002977.3(SCN9A):c.*2721C>G rs199595958
NM_002977.3(SCN9A):c.*2744del rs763459885
NM_002977.3(SCN9A):c.*2854T>C rs73017538
NM_002977.3(SCN9A):c.*2860C>T rs200963393
NM_002977.3(SCN9A):c.*2928G>A rs199559478
NM_002977.3(SCN9A):c.*2986T>G rs201730339
NM_002977.3(SCN9A):c.*3038C>T rs115766730
NM_002977.3(SCN9A):c.*3102C>T rs182687583
NM_002977.3(SCN9A):c.*3282A>C rs139483482
NM_002977.3(SCN9A):c.*3317A>G rs191667986
NM_002977.3(SCN9A):c.*3426A>T rs186838828
NM_002977.3(SCN9A):c.*377C>G rs115464654
NM_002977.3(SCN9A):c.*416dup rs3834910
NM_002977.3(SCN9A):c.*491del rs886055047
NM_002977.3(SCN9A):c.*529_*530del rs140024416
NM_002977.3(SCN9A):c.*669A>G rs538508619
NM_002977.3(SCN9A):c.*771_*772dup rs144515054
NM_002977.3(SCN9A):c.*785C>T rs181229506
NM_002977.3(SCN9A):c.*798dup rs564394161
NM_002977.3(SCN9A):c.*920T>A rs201424899
NM_002977.3(SCN9A):c.*948G>A rs201415802
NM_002977.3(SCN9A):c.*958C>T rs143727895
NM_002977.3(SCN9A):c.-126G>C rs200099565
NM_002977.3(SCN9A):c.-277C>T rs201445594
NM_002977.3(SCN9A):c.-283G>C rs191091185
NM_002977.3(SCN9A):c.-290T>C rs148362057
NM_002977.3(SCN9A):c.-294T>C rs141521157
NM_002977.3(SCN9A):c.-307G>T rs1881440
NM_002977.3(SCN9A):c.-324C>T rs201905758
NM_002977.3(SCN9A):c.-339G>C rs886055057
NM_002977.3(SCN9A):c.1014T>G (p.Asp338Glu) rs886055056
NM_002977.3(SCN9A):c.1094A>G (p.Asn365Ser) rs886055055
NM_002977.3(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_002977.3(SCN9A):c.1139T>A (p.Ile380Asn) rs188798505
NM_002977.3(SCN9A):c.1155G>T (p.Val385=) rs58465962
NM_002977.3(SCN9A):c.1207A>C (p.Met403Leu) rs746956041
NM_002977.3(SCN9A):c.1208T>C (p.Met403Thr) rs199986805
NM_002977.3(SCN9A):c.1238T>C (p.Ile413Thr) rs200689195
NM_002977.3(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_002977.3(SCN9A):c.1277T>A (p.Met426Lys) rs200415928
NM_002977.3(SCN9A):c.1280T>C (p.Leu427Ser) rs192406412
NM_002977.3(SCN9A):c.1287T>A (p.Arg429=) rs6747673
NM_002977.3(SCN9A):c.129T>C (p.Asp43=) rs200826539
NM_002977.3(SCN9A):c.1347T>C (p.Ser449=) rs201990547
NM_002977.3(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_002977.3(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_002977.3(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_002977.3(SCN9A):c.1482G>T (p.Lys494Asn) rs777699798
NM_002977.3(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572
NM_002977.3(SCN9A):c.1603-21dup rs200430382
NM_002977.3(SCN9A):c.1604C>T (p.Ser535Leu) rs201354321
NM_002977.3(SCN9A):c.1619G>A (p.Arg540His) rs199748300
NM_002977.3(SCN9A):c.1713C>T (p.Ala571=) rs200876333
NM_002977.3(SCN9A):c.174G>A (p.Gln58=) rs6432901
NM_002977.3(SCN9A):c.1793G>A (p.Arg598His) rs201318927
NM_002977.3(SCN9A):c.1838C>T (p.Pro613Leu) rs200671761
NM_002977.3(SCN9A):c.184A>G (p.Ile62Val) rs121908920
NM_002977.3(SCN9A):c.1942-12dup rs35888674
NM_002977.3(SCN9A):c.1942-3del rs35888674
NM_002977.3(SCN9A):c.1947G>A (p.Thr649=) rs200014315
NM_002977.3(SCN9A):c.1973G>A (p.Arg658His) rs200374987
NM_002977.3(SCN9A):c.2072-14C>T rs6432893
NM_002977.3(SCN9A):c.2072-15G>A rs4525717
NM_002977.3(SCN9A):c.2132T>C (p.Leu711Ser) rs187526567
NM_002977.3(SCN9A):c.213G>A (p.Val71=) rs200240989
NM_002977.3(SCN9A):c.2157G>C (p.Trp719Cys) rs202055175
NM_002977.3(SCN9A):c.2159T>A (p.Ile720Lys) rs200945460
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_002977.3(SCN9A):c.2318C>G (p.Thr773Ser) rs200624920
NM_002977.3(SCN9A):c.2359A>G (p.Met787Val) rs149707354
NM_002977.3(SCN9A):c.2404A>G (p.Ser802Gly) rs201890240
NM_002977.3(SCN9A):c.2428G>A (p.Val810Met) rs41268671
NM_002977.3(SCN9A):c.2463A>C (p.Ser821=) rs200185692
NM_002977.3(SCN9A):c.2484+6C>T rs145316463
NM_002977.3(SCN9A):c.274A>T (p.Asn92Tyr) rs747265095
NM_002977.3(SCN9A):c.2819T>C (p.Val940Ala) rs201890077
NM_002977.3(SCN9A):c.2841+13del rs200434162
NM_002977.3(SCN9A):c.2842-5del rs774840081
NM_002977.3(SCN9A):c.2842-6A>G rs760470229
NM_002977.3(SCN9A):c.2883T>C (p.Ser961=) rs886055054
NM_002977.3(SCN9A):c.294C>A (p.Phe98Leu) rs199824489
NM_002977.3(SCN9A):c.2969A>G (p.Tyr990Cys) rs199692186
NM_002977.3(SCN9A):c.2971G>T (p.Val991Leu) rs4369876
NM_002977.3(SCN9A):c.2987G>A (p.Arg996His) rs188145203
NM_002977.3(SCN9A):c.29A>G (p.Gln10Arg) rs267607030
NM_002977.3(SCN9A):c.3232G>A (p.Val1078Met) rs886055053
NM_002977.3(SCN9A):c.3310A>G (p.Ser1104Gly) rs201984007
NM_002977.3(SCN9A):c.3329G>A (p.Arg1110Gln) rs74401238
NM_002977.3(SCN9A):c.3335G>A (p.Ser1112Asn) rs141040985
NM_002977.3(SCN9A):c.3431T>A (p.Phe1144Tyr) rs750839038
NM_002977.3(SCN9A):c.3439+14T>C rs201979079
NM_002977.3(SCN9A):c.3464G>A (p.Cys1155Tyr) rs370455223
NM_002977.3(SCN9A):c.3505A>G (p.Asn1169Asp) rs750269576
NM_002977.3(SCN9A):c.3642C>A (p.Ile1214=) rs77144869
NM_002977.3(SCN9A):c.3651T>C (p.Tyr1217=) rs144941725
NM_002977.3(SCN9A):c.3721A>G (p.Thr1241Ala) rs886055052
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.3768T>C (p.Asp1256=) rs202047865
NM_002977.3(SCN9A):c.3769-4A>G rs75230218
NM_002977.3(SCN9A):c.3769-8T>C rs76550960
NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) rs180922748
NM_002977.3(SCN9A):c.3892-13T>C rs886055051
NM_002977.3(SCN9A):c.3911T>C (p.Ile1304Thr) rs202235611
NM_002977.3(SCN9A):c.4281C>T (p.Val1427=) rs188336294
NM_002977.3(SCN9A):c.4282G>A (p.Val1428Ile) rs149346064
NM_002977.3(SCN9A):c.4335C>G (p.Ile1445Met) rs1362318488
NM_002977.3(SCN9A):c.4366-10_4366-7delGTTT rs77944059
NM_002977.3(SCN9A):c.4366-14G>T rs112927502
NM_002977.3(SCN9A):c.4401_4403GAA[1] (p.Lys1469del) rs886055050
NM_002977.3(SCN9A):c.4449A>G (p.Gln1483=) rs1558945594
NM_002977.3(SCN9A):c.444A>G (p.Pro148=) rs9646771
NM_002977.3(SCN9A):c.4462C>A (p.Arg1488=) rs187558439
NM_002977.3(SCN9A):c.4470+8_4470+9insT rs767624579
NM_002977.3(SCN9A):c.4779G>T (p.Val1593=) rs149207258
NM_002977.3(SCN9A):c.4787C>T (p.Thr1596Ile) rs200470541
NM_002977.3(SCN9A):c.5346G>A (p.Ala1782=) rs201875421
NM_002977.3(SCN9A):c.553C>T (p.Arg185Cys) rs202083986
NM_002977.3(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_002977.3(SCN9A):c.5678G>A (p.Arg1893His) rs79805025
NM_002977.3(SCN9A):c.5723A>G (p.Asp1908Gly) rs3750904
NM_002977.3(SCN9A):c.5746C>T (p.Leu1916Phe) rs111558968
NM_002977.3(SCN9A):c.5787C>G (p.Asn1929Lys) rs371454107
NM_002977.3(SCN9A):c.5915G>T (p.Ser1972Ile) rs770802841
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_002977.3(SCN9A):c.685C>A (p.Pro229Thr) rs755653914
NM_002977.3(SCN9A):c.688+13T>C rs74449889
NM_002977.3(SCN9A):c.965+13T>C rs772337722
NM_003165.3(STXBP1):c.325+2_325+3del rs1554776853
NM_003165.4(STXBP1):c.1004C>T (p.Pro335Leu) rs398123695
NM_003165.4(STXBP1):c.1006C>T (p.Gln336Ter) rs1057519501
NM_003165.4(STXBP1):c.1029+1G>C rs727504173
NM_003165.4(STXBP1):c.1111-2A>G rs1554778417
NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_003165.4(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_003165.4(STXBP1):c.1328T>G (p.Met443Arg) rs121918319
NM_003165.4(STXBP1):c.1439C>T (p.Pro480Leu) rs796053368
NM_003165.4(STXBP1):c.1492dup (p.His498fs) rs1564356269
NM_003165.4(STXBP1):c.1548C>T (p.Ser516=) rs145304925
NM_003165.4(STXBP1):c.1557T>A (p.Tyr519Ter) rs1564357089
NM_003165.4(STXBP1):c.1631G>A (p.Gly544Asp) rs121918317
NM_003165.4(STXBP1):c.1651C>A (p.Arg551Ser) rs796053373
NM_003165.4(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_003165.4(STXBP1):c.1680C>T (p.Asn560=) rs201809337
NM_003165.4(STXBP1):c.169+1G>A rs587776641
NM_003165.4(STXBP1):c.170-2A>G rs1554776674
NM_003165.4(STXBP1):c.1702+10C>T rs147607230
NM_003165.4(STXBP1):c.1756G>A (p.Asp586Asn) rs746172968
NM_003165.4(STXBP1):c.247-8A>G rs199827018
NM_003165.4(STXBP1):c.251T>A (p.Val84Asp) rs121918320
NM_003165.4(STXBP1):c.325+8C>T rs117372398
NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_003165.4(STXBP1):c.433T>C (p.Tyr145His) rs587784455
NM_003165.4(STXBP1):c.533C>T (p.Thr178Ile) rs1564350546
NM_003165.4(STXBP1):c.539G>A (p.Cys180Tyr) rs121918318
NM_003165.4(STXBP1):c.568C>T (p.Arg190Trp) rs796053355
NM_003165.4(STXBP1):c.578+1G>A
NM_003165.4(STXBP1):c.692dup (p.Ile232fs) rs1564351388
NM_003165.4(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_003165.4(STXBP1):c.714C>A (p.Asp238Glu) rs587784456
NM_003165.4(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_003165.4(STXBP1):c.754_755del (p.Met252fs) rs587784454
NM_003165.4(STXBP1):c.791A>G (p.Tyr264Cys) rs1316686443
NM_003165.4(STXBP1):c.79G>T (p.Glu27Ter) rs1564346538
NM_003165.4(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_003165.4(STXBP1):c.87+2T>C rs1554775960
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003165.4(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_003165.4(STXBP1):c.902+10C>T rs760108945
NM_003165.4(STXBP1):c.902+1G>A rs886041978
NM_006920.4(SCN1A):c.384_473del (p.Leu129_Glu158del) rs1553552270
NM_006920.6(SCN1A):c.1007G>A (p.Cys336Tyr) rs794726798
NM_006920.6(SCN1A):c.1024G>T (p.Ala342Ser) rs794726843
NM_006920.6(SCN1A):c.1025C>A (p.Ala342Glu) rs794726797
NM_006920.6(SCN1A):c.1025C>T (p.Ala342Val) rs794726797
NM_006920.6(SCN1A):c.1028+1G>T rs863225030
NM_006920.6(SCN1A):c.1028G>A (p.Gly343Asp) rs121918753
NM_006920.6(SCN1A):c.1033T>C (p.Cys345Arg) rs794726782
NM_006920.6(SCN1A):c.1046A>G (p.Tyr349Cys) rs794726844
NM_006920.6(SCN1A):c.1048A>G (p.Met350Val) rs794726768
NM_006920.6(SCN1A):c.1049_1050TG[3] (p.Val352fs) rs794726767
NM_006920.6(SCN1A):c.1066A>G (p.Arg356Gly) rs121917920
NM_006920.6(SCN1A):c.1072C>A (p.Pro358Thr) rs121917923
NM_006920.6(SCN1A):c.1072C>T (p.Pro358Ser) rs121917923
NM_006920.6(SCN1A):c.1076A>G (p.Asn359Ser) rs794726713
NM_006920.6(SCN1A):c.1096_1115del (p.Asp366fs) rs794726792
NM_006920.6(SCN1A):c.1098T>A (p.Asp366Glu) rs121917958
NM_006920.6(SCN1A):c.1118del (p.Leu373fs) rs794726695
NM_006920.6(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_006920.6(SCN1A):c.1130G>A (p.Arg377Gln) rs121917957
NM_006920.6(SCN1A):c.1136T>A (p.Met379Lys) rs794726732
NM_006920.6(SCN1A):c.1146C>A (p.Asp382Glu) rs794726753
NM_006920.6(SCN1A):c.1149C>G (p.Phe383Leu) rs121917939
NM_006920.6(SCN1A):c.1170+1G>T rs794726765
NM_006920.6(SCN1A):c.1177C>A (p.Arg393Ser) rs121917929
NM_006920.6(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_006920.6(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_006920.6(SCN1A):c.1182_1183insA (p.Ala395fs) rs794726777
NM_006920.6(SCN1A):c.1183_1184del (p.Ala395fs) rs794726776
NM_006920.6(SCN1A):c.1197_1198del (p.Met400fs) rs794726818
NM_006920.6(SCN1A):c.1199T>A (p.Met400Lys) rs794726725
NM_006920.6(SCN1A):c.1207T>C (p.Phe403Leu) rs121917966
NM_006920.6(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_006920.6(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_006920.6(SCN1A):c.121A>T (p.Lys41Ter) rs764444350
NM_006920.6(SCN1A):c.1237T>A (p.Tyr413Asn) rs121917967
NM_006920.6(SCN1A):c.1259C>T (p.Ala420Val) rs794726826
NM_006920.6(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_006920.6(SCN1A):c.1265T>C (p.Val422Ala) rs121917989
NM_006920.6(SCN1A):c.126del (p.Asp43fs) rs1553560831
NM_006920.6(SCN1A):c.1276T>A (p.Tyr426Asn) rs121917940
NM_006920.6(SCN1A):c.1301del (p.Leu434fs) rs794726810
NM_006920.6(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326
NM_006920.6(SCN1A):c.1345G>T (p.Glu449Ter) rs794726807
NM_006920.6(SCN1A):c.136G>A (p.Glu46Lys) rs769582667
NM_006920.6(SCN1A):c.1442_1445del (p.Asp481fs) rs794726829
NM_006920.6(SCN1A):c.1516C>T (p.Gln506Ter) rs794726790
NM_006920.6(SCN1A):c.1604G>A (p.Arg535His) rs184524479
NM_006920.6(SCN1A):c.1624C>T (p.Arg542Ter) rs138877187
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006920.6(SCN1A):c.1660dup (p.Gln554fs) rs794726717
NM_006920.6(SCN1A):c.1662+1G>T rs794726749
NM_006920.6(SCN1A):c.1662+3A>G rs794726773
NM_006920.6(SCN1A):c.1667del (p.Leu556fs) rs794726704
NM_006920.6(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_006920.6(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_006920.6(SCN1A):c.1738C>T (p.Arg580Ter) rs794726736
NM_006920.6(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_006920.6(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_006920.6(SCN1A):c.1804G>T (p.Glu602Ter) rs794726834
NM_006920.6(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.6(SCN1A):c.1834C>T (p.Arg612Ter) rs794726778
NM_006920.6(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_006920.6(SCN1A):c.185del (p.Pro62fs) rs35595680
NM_006920.6(SCN1A):c.1876A>G (p.Ser626Gly) rs121917990
NM_006920.6(SCN1A):c.187T>C (p.Phe63Leu) rs121917907
NM_006920.6(SCN1A):c.1970C>T (p.Pro657Leu) rs794726838
NM_006920.6(SCN1A):c.2010+10_2010+13del rs1553544470
NM_006920.6(SCN1A):c.2038A>T (p.Lys680Ter) rs794726747
NM_006920.6(SCN1A):c.2067del (p.Met690fs) rs794726806
NM_006920.6(SCN1A):c.2101C>T (p.Arg701Ter) rs794726730
NM_006920.6(SCN1A):c.2143+3T>A rs794726795
NM_006920.6(SCN1A):c.2180G>A (p.Trp727Ter) rs794726742
NM_006920.6(SCN1A):c.2180G>T (p.Trp727Leu) rs794726742
NM_006920.6(SCN1A):c.2228G>T (p.Trp743Leu) rs794726743
NM_006920.6(SCN1A):c.2259T>C (p.Val753=) rs6432860
NM_006920.6(SCN1A):c.2266_2269dup (p.Pro757fs) rs794726750
NM_006920.6(SCN1A):c.2270C>T (p.Pro757Leu) rs794726766
NM_006920.6(SCN1A):c.2285_2286insT (p.Ile763fs) rs794726820
NM_006920.6(SCN1A):c.2315T>C (p.Leu772Pro) rs121917968
NM_006920.6(SCN1A):c.2320A>G (p.Met774Val) rs767045134
NM_006920.6(SCN1A):c.234G>T (p.Glu78Asp) rs121917933
NM_006920.6(SCN1A):c.235G>C (p.Asp79His) rs121917982
NM_006920.6(SCN1A):c.2389A>T (p.Thr797Ser) rs121918758
NM_006920.6(SCN1A):c.2402C>G (p.Thr801Arg) rs121917941
NM_006920.6(SCN1A):c.2446T>G (p.Tyr816Asp) rs794726805
NM_006920.6(SCN1A):c.2490_2491del (p.Thr830_Leu831insTer) rs794726738
NM_006920.6(SCN1A):c.249C>A (p.Tyr83Ter) rs863225031
NM_006920.6(SCN1A):c.2503G>A (p.Glu835Lys) rs121917942
NM_006920.6(SCN1A):c.2504A>G (p.Glu835Gly) rs794726794
NM_006920.6(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.6(SCN1A):c.2551C>G (p.Arg851Gly) rs397514459
NM_006920.6(SCN1A):c.2551C>T (p.Arg851Ter) rs397514459
NM_006920.6(SCN1A):c.2552G>A (p.Arg851Gln) rs121918785
NM_006920.6(SCN1A):c.2555T>G (p.Leu852Trp) rs794726712
NM_006920.6(SCN1A):c.2556+3A>T rs794726775
NM_006920.6(SCN1A):c.2560C>T (p.Arg854Ter) rs794726697
NM_006920.6(SCN1A):c.2570del (p.Lys857fs) rs794726787
NM_006920.6(SCN1A):c.2582C>A (p.Ser861Tyr) rs794726786
NM_006920.6(SCN1A):c.2591C>A (p.Thr864Lys) rs121918623
NM_006920.6(SCN1A):c.264+5G>A rs794726762
NM_006920.6(SCN1A):c.264+5G>C rs794726762
NM_006920.6(SCN1A):c.2645T>A (p.Leu882Ter) rs794726815
NM_006920.6(SCN1A):c.2657T>C (p.Leu886Ser) rs794726761
NM_006920.6(SCN1A):c.2672T>G (p.Phe891Cys) rs121918787
NM_006920.6(SCN1A):c.2695C>A (p.Gln899Lys) rs794726721
NM_006920.6(SCN1A):c.2695C>T (p.Gln899Ter) rs794726721
NM_006920.6(SCN1A):c.269T>C (p.Phe90Ser) rs121918733
NM_006920.6(SCN1A):c.272T>C (p.Ile91Thr) rs121918734
NM_006920.6(SCN1A):c.2747G>T (p.Cys916Phe) rs794726811
NM_006920.6(SCN1A):c.2758C>T (p.Arg920Cys) rs121918788
NM_006920.6(SCN1A):c.2759G>A (p.Arg920His) rs794726718
NM_006920.6(SCN1A):c.2759G>C (p.Arg920Pro) rs794726718
NM_006920.6(SCN1A):c.2769G>C (p.Met923Ile) rs121918774
NM_006920.6(SCN1A):c.2782C>T (p.His928Tyr) rs121918736
NM_006920.6(SCN1A):c.2784C>G (p.His928Gln) rs121918795
NM_006920.6(SCN1A):c.2792T>C (p.Leu931Pro) rs121917943
NM_006920.6(SCN1A):c.2798T>C (p.Val933Ala) rs121917969
NM_006920.6(SCN1A):c.2800T>C (p.Phe934Leu) rs121917970
NM_006920.6(SCN1A):c.2803C>A (p.Arg935Ser) rs121918775
NM_006920.6(SCN1A):c.2803C>T (p.Arg935Cys) rs121918775
NM_006920.6(SCN1A):c.2804G>A (p.Arg935His) rs121917971
NM_006920.6(SCN1A):c.2804G>C (p.Arg935Pro) rs121917971
NM_006920.6(SCN1A):c.2816G>A (p.Gly939Glu) rs121917972
NM_006920.6(SCN1A):c.2821T>G (p.Trp941Gly) rs121918737
NM_006920.6(SCN1A):c.2827G>A (p.Glu943Lys) rs121918786
NM_006920.6(SCN1A):c.2837G>T (p.Trp946Leu) rs121917917
NM_006920.6(SCN1A):c.2839_2848del (p.Asp947fs) rs794726808
NM_006920.6(SCN1A):c.2842T>C (p.Cys948Arg) rs121918796
NM_006920.6(SCN1A):c.2843G>A (p.Cys948Tyr) rs794726716
NM_006920.6(SCN1A):c.2845A>G (p.Met949Val) rs121918750
NM_006920.6(SCN1A):c.2846T>G (p.Met949Arg) rs794726708
NM_006920.6(SCN1A):c.2870G>T (p.Cys957Phe) rs794726823
NM_006920.6(SCN1A):c.2896G>A (p.Val966Met) rs794726828
NM_006920.6(SCN1A):c.289_292del (p.Lys97fs) rs794726796
NM_006920.6(SCN1A):c.2902G>A (p.Gly968Arg) rs121918754
NM_006920.6(SCN1A):c.2903G>A (p.Gly968Glu) rs794726842
NM_006920.6(SCN1A):c.2913+1G>T rs794726772
NM_006920.6(SCN1A):c.2913+1_2913+2del rs794726714
NM_006920.6(SCN1A):c.2914-41C>T rs7601520
NM_006920.6(SCN1A):c.2915T>C (p.Val972Ala) rs121918756
NM_006920.6(SCN1A):c.2921A>T (p.Asn974Ile) rs121918747
NM_006920.6(SCN1A):c.2923C>T (p.Leu975Phe) rs121918625
NM_006920.6(SCN1A):c.2947_2948del (p.Ser983fs) rs794726830
NM_006920.6(SCN1A):c.2952T>G (p.Phe984Leu) rs794726746
NM_006920.6(SCN1A):c.2984del (p.Asp995fs) rs794726813
NM_006920.6(SCN1A):c.2999A>T (p.Asn1000Ile) rs121918759
NM_006920.6(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_006920.6(SCN1A):c.3029_3033del (p.Lys1010fs) rs794726756
NM_006920.6(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_006920.6(SCN1A):c.3065T>C (p.Phe1022Ser) rs796052992
NM_006920.6(SCN1A):c.3073C>T (p.Gln1025Ter) rs542420576
NM_006920.6(SCN1A):c.307A>G (p.Ser103Gly) rs121918743
NM_006920.6(SCN1A):c.308G>T (p.Ser103Ile) rs760361423
NM_006920.6(SCN1A):c.323T>C (p.Leu108Pro) rs794726793
NM_006920.6(SCN1A):c.3273C>A (p.Tyr1091Ter) rs863225032
NM_006920.6(SCN1A):c.335C>T (p.Thr112Ile) rs121918745
NM_006920.6(SCN1A):c.337C>A (p.Pro113Thr) rs794726711
NM_006920.6(SCN1A):c.338C>G (p.Pro113Arg) rs1553553462
NM_006920.6(SCN1A):c.3406G>T (p.Glu1136Ter) rs794726733
NM_006920.6(SCN1A):c.3422C>A (p.Ser1141Ter) rs794726728
NM_006920.6(SCN1A):c.3444del (p.Ile1148fs) rs794726729
NM_006920.6(SCN1A):c.3448G>A (p.Ala1150Thr) rs201079458
NM_006920.6(SCN1A):c.3454del (p.Pro1151_Val1152insTer) rs794726774
NM_006920.6(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_006920.6(SCN1A):c.3479C>T (p.Pro1160Leu) rs1559152754
NM_006920.6(SCN1A):c.3517+1G>A rs794726836
NM_006920.6(SCN1A):c.354G>C (p.Arg118Ser) rs121917959
NM_006920.6(SCN1A):c.3576del (p.Gln1192fs)
NM_006920.6(SCN1A):c.3582G>A (p.Trp1194Ter) rs794726720
NM_006920.6(SCN1A):c.3587T>C (p.Leu1196Pro) rs121917963
NM_006920.6(SCN1A):c.3596C>A (p.Thr1199Lys) rs121918738
NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter) rs794726710
NM_006920.6(SCN1A):c.3624G>A (p.Trp1208Ter) rs863225033
NM_006920.6(SCN1A):c.3628G>C (p.Glu1210Gln) rs794726854
NM_006920.6(SCN1A):c.3657dup (p.Ser1220Ter) rs1057519534
NM_006920.6(SCN1A):c.3659G>C (p.Ser1220Thr) rs121918800
NM_006920.6(SCN1A):c.3660T>A (p.Ser1220Arg) rs121918746
NM_006920.6(SCN1A):c.3664G>C (p.Gly1222Arg) rs121917911
NM_006920.6(SCN1A):c.3671del (p.Leu1224fs) rs869312670
NM_006920.6(SCN1A):c.3672+1G>A rs794726744
NM_006920.6(SCN1A):c.3672+2T>A rs794726735
NM_006920.6(SCN1A):c.3673G>C (p.Ala1225Pro) rs794726770
NM_006920.6(SCN1A):c.3681A>C (p.Glu1227Asp) rs121917973
NM_006920.6(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006920.6(SCN1A):c.3693_3694insAT (p.Asp1232fs) rs794726706
NM_006920.6(SCN1A):c.3697C>T (p.Gln1233Ter) rs794726727
NM_006920.6(SCN1A):c.3700C>T (p.Arg1234Ter) rs727504136
NM_006920.6(SCN1A):c.3701G>A (p.Arg1234Gln) rs121917912
NM_006920.6(SCN1A):c.371T>A (p.Ile124Asn) rs121918761
NM_006920.6(SCN1A):c.3724G>T (p.Glu1242Ter) rs794726817
NM_006920.6(SCN1A):c.3730G>C (p.Ala1244Pro) rs777939538
NM_006920.6(SCN1A):c.3745A>C (p.Thr1249Pro) rs121918739
NM_006920.6(SCN1A):c.3756C>G (p.Phe1252Leu) rs121918752
NM_006920.6(SCN1A):c.3761T>C (p.Leu1254Pro) rs121918794
NM_006920.6(SCN1A):c.3769_3779del (p.Leu1257fs) rs794726709
NM_006920.6(SCN1A):c.3785C>T (p.Ala1262Val) rs794726841
NM_006920.6(SCN1A):c.3788A>C (p.Tyr1263Ser) rs794726852
NM_006920.6(SCN1A):c.3795T>A (p.Tyr1265Ter) rs794726731
NM_006920.6(SCN1A):c.379C>G (p.His127Asp) rs148442069
NM_006920.6(SCN1A):c.380A>T (p.His127Leu) rs794726831
NM_006920.6(SCN1A):c.3819del (p.Trp1273fs) rs863225034
NM_006920.6(SCN1A):c.3825G>A (p.Trp1275Ter) rs794726853
NM_006920.6(SCN1A):c.3827T>C (p.Leu1276Pro) rs121918740
NM_006920.6(SCN1A):c.383+1A>G rs794726803
NM_006920.6(SCN1A):c.384-1C>G rs794726764
NM_006920.6(SCN1A):c.3846+1G>T rs794726700
NM_006920.6(SCN1A):c.3847-2A>G rs794726816
NM_006920.6(SCN1A):c.3866C>G (p.Thr1289Arg) rs146878122
NM_006920.6(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.6(SCN1A):c.3935_3936CT[3] (p.Leu1313_Arg1314insTer) rs794726723
NM_006920.6(SCN1A):c.3943G>C (p.Ala1315Pro) rs121918803
NM_006920.6(SCN1A):c.3952C>T (p.Arg1318Ter) rs796053004
NM_006920.6(SCN1A):c.3969+2451G>C rs869312684
NM_006920.6(SCN1A):c.3970G>A (p.Val1324Met) rs121917960
NM_006920.6(SCN1A):c.3983C>T (p.Ala1328Val) rs794726789
NM_006920.6(SCN1A):c.4007T>A (p.Ile1336Asn) rs1553525325
NM_006920.6(SCN1A):c.4011G>A (p.Met1337Ile) rs794726822
NM_006920.6(SCN1A):c.4022T>C (p.Leu1341Pro) rs794726821
NM_006920.6(SCN1A):c.4031T>C (p.Leu1344Pro) rs121918776
NM_006920.6(SCN1A):c.4040G>C (p.Trp1347Ser) rs121917961
NM_006920.6(SCN1A):c.4053C>G (p.Ser1351Arg) rs794726779
NM_006920.6(SCN1A):c.4055T>A (p.Ile1352Asn) rs794726707
NM_006920.6(SCN1A):c.4068T>A (p.Asn1356Lys) rs121918760
NM_006920.6(SCN1A):c.4100A>T (p.Asn1367Ile)
NM_006920.6(SCN1A):c.4135G>A (p.Val1379Met) rs121917986
NM_006920.6(SCN1A):c.4135G>C (p.Val1379Leu) rs121917986
NM_006920.6(SCN1A):c.4153T>G (p.Cys1385Gly) rs121917987
NM_006920.6(SCN1A):c.4155C>A (p.Cys1385Ter) rs794726745
NM_006920.6(SCN1A):c.4190G>A (p.Trp1397Ter) rs794726784
NM_006920.6(SCN1A):c.4207A>T (p.Asn1403Tyr) rs121917925
NM_006920.6(SCN1A):c.4211_4212del (p.Asn1403_Phe1404insTer) rs794726705
NM_006920.6(SCN1A):c.4232A>G (p.Tyr1411Cys) rs121917913
NM_006920.6(SCN1A):c.4233T>A (p.Tyr1411Ter) rs863225035
NM_006920.6(SCN1A):c.4244T>G (p.Leu1415Arg) rs121917944
NM_006920.6(SCN1A):c.4264G>A (p.Gly1422Arg) rs121917908
NM_006920.6(SCN1A):c.4265G>A (p.Gly1422Glu) rs121918741
NM_006920.6(SCN1A):c.4267T>C (p.Trp1423Arg) rs121918789
NM_006920.6(SCN1A):c.4269G>A (p.Trp1423Ter) rs794726699
NM_006920.6(SCN1A):c.4288G>C (p.Ala1430Pro) rs121917974
NM_006920.6(SCN1A):c.4305+4A>C rs794726734
NM_006920.6(SCN1A):c.4315C>A (p.Gln1439Lys) rs121918806
NM_006920.6(SCN1A):c.4316A>G (p.Gln1439Arg) rs121918790
NM_006920.6(SCN1A):c.4318C>A (p.Pro1440Thr) rs794726696
NM_006920.6(SCN1A):c.4319C>T (p.Pro1440Leu) rs121917945
NM_006920.6(SCN1A):c.433A>G (p.Met145Val) rs794726849
NM_006920.6(SCN1A):c.4348C>A (p.Leu1450Ile) rs121918772
NM_006920.6(SCN1A):c.4352A>G (p.Tyr1451Cys) rs121917962
NM_006920.6(SCN1A):c.4355T>C (p.Phe1452Ser) rs121917946
NM_006920.6(SCN1A):c.4375G>T (p.Gly1459Trp) rs121917924
NM_006920.6(SCN1A):c.4379C>T (p.Ser1460Phe) rs794726809
NM_006920.6(SCN1A):c.4391T>C (p.Leu1464Ser) rs121917947
NM_006920.6(SCN1A):c.4443+1A>G rs796053014
NM_006920.6(SCN1A):c.4444-2A>G rs863225036
NM_006920.6(SCN1A):c.4508T>C (p.Leu1503Ser) rs121918764
NM_006920.6(SCN1A):c.4514C>A (p.Ser1505Ter) rs139300715
NM_006920.6(SCN1A):c.4514C>G (p.Ser1505Trp) rs139300715
NM_006920.6(SCN1A):c.4514C>T (p.Ser1505Leu) rs139300715
NM_006920.6(SCN1A):c.4516A>T (p.Lys1506Ter) rs794726835
NM_006920.6(SCN1A):c.4521del (p.Lys1507fs) rs794726825
NM_006920.6(SCN1A):c.4540C>T (p.Arg1514Ter) rs794726752
NM_006920.6(SCN1A):c.4578_4612dup (p.Ile1538delinsThrTer) rs794726757
NM_006920.6(SCN1A):c.4579G>A (p.Val1527Ile) rs780360360
NM_006920.6(SCN1A):c.4600A>G (p.Ile1534Val) rs121917975
NM_006920.6(SCN1A):c.4724G>A (p.Gly1575Glu) rs121918742
NM_006920.6(SCN1A):c.4729T>C (p.Cys1577Arg) rs121917919
NM_006920.6(SCN1A):c.473+1G>C rs794726840
NM_006920.6(SCN1A):c.4733T>G (p.Val1578Gly) rs764037830
NM_006920.6(SCN1A):c.474_602del (p.Thr160_Tyr202del) rs1553551314
NM_006920.6(SCN1A):c.4778G>A (p.Trp1593Ter) rs794726800
NM_006920.6(SCN1A):c.4781A>T (p.Asn1594Ile) rs1057519533
NM_006920.6(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.6(SCN1A):c.4790del (p.Asp1597fs) rs794726785
NM_006920.6(SCN1A):c.4794_4795TG[3] (p.Val1600fs) rs794726850
NM_006920.6(SCN1A):c.4798G>T (p.Val1600Phe) rs121918630
NM_006920.6(SCN1A):c.4801G>A (p.Val1601Ile) rs121918808
NM_006920.6(SCN1A):c.4846_4850dup (p.Tyr1617Ter) rs794726701
NM_006920.6(SCN1A):c.484A>C (p.Thr162Pro) rs121917934
NM_006920.6(SCN1A):c.4855G>A (p.Val1619Met) rs121917914
NM_006920.6(SCN1A):c.4861C>T (p.Pro1621Ser) rs121918755
NM_006920.6(SCN1A):c.4873C>T (p.Arg1625Ter) rs199727342
NM_006920.6(SCN1A):c.4900C>T (p.Arg1634Ter) rs794726759
NM_006920.6(SCN1A):c.4901G>A (p.Arg1634Gln) rs121917976
NM_006920.6(SCN1A):c.4901G>C (p.Arg1634Pro) rs121917976
NM_006920.6(SCN1A):c.4909C>T (p.Arg1637Cys) rs121918791
NM_006920.6(SCN1A):c.4910G>A (p.Arg1637His) rs121918622
NM_006920.6(SCN1A):c.493T>C (p.Tyr165His) rs1553551493
NM_006920.6(SCN1A):c.4940C>G (p.Thr1647Arg) rs121917922
NM_006920.6(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.6(SCN1A):c.4949T>C (p.Phe1650Ser) rs121918797
NM_006920.6(SCN1A):c.4952C>T (p.Ala1651Val) rs794726839
NM_006920.6(SCN1A):c.4958T>A (p.Met1653Lys) rs121918765
NM_006920.6(SCN1A):c.4960_4963dup (p.Ser1655fs) rs794726819
NM_006920.6(SCN1A):c.4964C>T (p.Ser1655Phe) rs794726760
NM_006920.6(SCN1A):c.4969C>G (p.Pro1657Ala) rs121917948
NM_006920.6(SCN1A):c.4970C>G (p.Pro1657Arg) rs794726698
NM_006920.6(SCN1A):c.4970del (p.Pro1657fs) rs794726758
NM_006920.6(SCN1A):c.4973C>A (p.Ala1658Glu) rs397514458
NM_006920.6(SCN1A):c.4977_4980del (p.Phe1660fs) rs794726754
NM_006920.6(SCN1A):c.4981A>C (p.Asn1661His) rs794726740
NM_006920.6(SCN1A):c.4987G>C (p.Gly1663Arg) rs121918792
NM_006920.6(SCN1A):c.5021C>A (p.Ala1674Asp) rs121918744
NM_006920.6(SCN1A):c.5030G>T (p.Gly1677Val) rs794726851
NM_006920.6(SCN1A):c.5042T>C (p.Phe1681Ser) rs121918778
NM_006920.6(SCN1A):c.5048A>G (p.Tyr1683Cys) rs121918777
NM_006920.6(SCN1A):c.5049T>G (p.Tyr1683Ter) rs794726748
NM_006920.6(SCN1A):c.505T>C (p.Ser169Pro) rs796052957
NM_006920.6(SCN1A):c.5073T>A (p.Asp1691Glu) rs794726804
NM_006920.6(SCN1A):c.5075A>T (p.Asp1692Val) rs794726802
NM_006920.6(SCN1A):c.5086T>G (p.Phe1696Val) rs121917977
NM_006920.6(SCN1A):c.5093C>T (p.Thr1698Ile) rs121918629
NM_006920.6(SCN1A):c.5105G>A (p.Ser1702Asn) rs121918816
NM_006920.6(SCN1A):c.5108T>G (p.Met1703Arg) rs121917949
NM_006920.6(SCN1A):c.5113T>C (p.Cys1705Arg) rs121917926
NM_006920.6(SCN1A):c.5129C>G (p.Thr1710Arg) rs121917978
NM_006920.6(SCN1A):c.512T>A (p.Ile171Lys) rs121918766
NM_006920.6(SCN1A):c.5143T>C (p.Trp1715Arg) rs121917979
NM_006920.6(SCN1A):c.5184C>T (p.Pro1728=) rs149315236
NM_006920.6(SCN1A):c.5189G>A (p.Cys1730Tyr) rs794726763
NM_006920.6(SCN1A):c.5213G>A (p.Gly1738Glu) rs121918798
NM_006920.6(SCN1A):c.5217_5218insGG (p.Ser1740fs) rs794726702
NM_006920.6(SCN1A):c.5217_5219del (p.Ser1739_Ser1740delinsArg) rs794726703
NM_006920.6(SCN1A):c.5231A>G (p.Asp1744Gly) rs794726722
NM_006920.6(SCN1A):c.5233T>G (p.Cys1745Gly) rs121918809
NM_006920.6(SCN1A):c.523G>A (p.Ala175Thr) rs121918767
NM_006920.6(SCN1A):c.5251_5258dup (p.Phe1753fs) rs794726814
NM_006920.6(SCN1A):c.5252G>A (p.Gly1751Glu) rs121917950
NM_006920.6(SCN1A):c.5264_5265del (p.Phe1755fs) rs794726832
NM_006920.6(SCN1A):c.5285C>T (p.Ser1762Phe) rs121917951
NM_006920.6(SCN1A):c.5301del (p.Asn1768fs) rs794726783
NM_006920.6(SCN1A):c.5306T>C (p.Met1769Thr) rs121917952
NM_006920.6(SCN1A):c.5309A>G (p.Tyr1770Cys) rs121918779
NM_006920.6(SCN1A):c.530G>A (p.Gly177Glu) rs121918770
NM_006920.6(SCN1A):c.530G>T (p.Gly177Val) rs121918770
NM_006920.6(SCN1A):c.5313C>G (p.Ile1771Met) rs121918763
NM_006920.6(SCN1A):c.5314G>A (p.Ala1772Thr) rs121917980
NM_006920.6(SCN1A):c.5315C>T (p.Ala1772Val) rs121917921
NM_006920.6(SCN1A):c.5316_5319dup (p.Ile1774fs) rs794726741
NM_006920.6(SCN1A):c.5318T>A (p.Val1773Asp) rs1057518671
NM_006920.6(SCN1A):c.5318T>C (p.Val1773Ala) rs1057518671
NM_006920.6(SCN1A):c.5326G>A (p.Glu1776Lys) rs121917916
NM_006920.6(SCN1A):c.5350G>A (p.Glu1784Lys) rs121918813
NM_006920.6(SCN1A):c.5371G>T (p.Glu1791Ter) rs794726780
NM_006920.6(SCN1A):c.5389T>C (p.Phe1797Leu) rs121918757
NM_006920.6(SCN1A):c.5401T>G (p.Trp1801Gly) rs121918751
NM_006920.6(SCN1A):c.5403G>A (p.Trp1801Ter) rs863225037
NM_006920.6(SCN1A):c.5428C>T (p.Gln1810Ter) rs794726781
NM_006920.6(SCN1A):c.5437G>T (p.Glu1813Ter) rs794726769
NM_006920.6(SCN1A):c.5459T>C (p.Phe1820Ser) rs121918748
NM_006920.6(SCN1A):c.5468C>T (p.Ala1823Val) rs780809852
NM_006920.6(SCN1A):c.5482C>G (p.Leu1828Val) rs794726801
NM_006920.6(SCN1A):c.5499_5502AAAC[1] (p.Lys1835fs) rs794726726
NM_006920.6(SCN1A):c.5503A>T (p.Lys1835Ter) rs372098964
NM_006920.6(SCN1A):c.5522T>C (p.Met1841Thr) rs121918783
NM_006920.6(SCN1A):c.5610G>C (p.Glu1870Asp) rs121918804
NM_006920.6(SCN1A):c.5623C>T (p.Arg1875Ter) rs779614747
NM_006920.6(SCN1A):c.5629C>T (p.Gln1877Ter) rs794726845
NM_006920.6(SCN1A):c.5641C>T (p.Arg1881Ter) rs794726739
NM_006920.6(SCN1A):c.568T>C (p.Trp190Arg) rs121918773
NM_006920.6(SCN1A):c.5693C>T (p.Thr1898Ile) rs121918793
NM_006920.6(SCN1A):c.571A>T (p.Asn191Tyr) rs121918762
NM_006920.6(SCN1A):c.5732T>C (p.Ile1911Thr) rs121917981
NM_006920.6(SCN1A):c.5747G>C (p.Arg1916Thr) rs794726737
NM_006920.6(SCN1A):c.580G>A (p.Asp194Asn) rs121917935
NM_006920.6(SCN1A):c.5837A>G (p.Glu1946Gly) rs121918802
NM_006920.6(SCN1A):c.5918C>A (p.Pro1973His) rs146733308
NM_006920.6(SCN1A):c.5955A>C (p.Lys1985Asn) rs371243629
NM_006920.6(SCN1A):c.596C>G (p.Thr199Arg) rs121917983
NM_006920.6(SCN1A):c.602+1G>A rs794726827
NM_006920.6(SCN1A):c.602+1G>T rs794726827
NM_006920.6(SCN1A):c.602+3A>C rs794726833
NM_006920.6(SCN1A):c.603-2A>G rs1057519531
NM_006920.6(SCN1A):c.650C>A (p.Thr217Lys) rs121917936
NM_006920.6(SCN1A):c.655_656AG[1] (p.Arg219fs)
NM_006920.6(SCN1A):c.659_662del (p.Val220fs) rs794726724
NM_006920.6(SCN1A):c.661C>G (p.Leu221Val) rs886039456
NM_006920.6(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_006920.6(SCN1A):c.675G>C (p.Lys225Asn) rs794726719
NM_006920.6(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_006920.6(SCN1A):c.680T>G (p.Ile227Ser) rs121917937
NM_006920.6(SCN1A):c.682T>C (p.Ser228Pro) rs1057519530
NM_006920.6(SCN1A):c.694+5G>C rs727504142
NM_006920.6(SCN1A):c.70G>A (p.Ala24Thr) rs794726848
NM_006920.6(SCN1A):c.715G>A (p.Ala239Thr) rs121917985
NM_006920.6(SCN1A):c.716C>T (p.Ala239Val) rs121917909
NM_006920.6(SCN1A):c.728C>A (p.Ser243Tyr) rs794726755
NM_006920.6(SCN1A):c.747T>G (p.Asp249Glu) rs773407463
NM_006920.6(SCN1A):c.751del (p.Val250_Met251insTer) rs794726751
NM_006920.6(SCN1A):c.755T>A (p.Ile252Asn) rs121918780
NM_006920.6(SCN1A):c.769T>C (p.Cys257Arg) rs794726771
NM_006920.6(SCN1A):c.777C>A (p.Ser259Arg) rs121918735
NM_006920.6(SCN1A):c.793G>T (p.Gly265Trp) rs121918749
NM_006920.6(SCN1A):c.825_826insGTATA (p.Lys276delinsValTer) rs794726812
NM_006920.6(SCN1A):c.826A>C (p.Lys276Gln) rs794726847
NM_006920.6(SCN1A):c.838T>C (p.Trp280Arg) rs121917938
NM_006920.6(SCN1A):c.890C>T (p.Thr297Ile) rs121918771
NM_006920.6(SCN1A):c.896_905del (p.Asn299fs) rs794726788
NM_006920.6(SCN1A):c.930_931dup (p.Glu311fs) rs794726846
NM_006920.6(SCN1A):c.964+14T>G rs794726837
NM_006920.6(SCN1A):c.965-1G>A rs794726824
NM_006920.6(SCN1A):c.965G>T (p.Arg322Ile) rs121917928
NM_006920.6(SCN1A):c.992dup (p.Leu331fs) rs863225038
NM_030918.6(SNX27):c.1356dup (p.Leu453fs) rs1553266166
NM_030918.6(SNX27):c.265dup (p.Ala89fs)
NM_198903.2(GABRG2):c.*1320G>A rs886060385
NM_198903.2(GABRG2):c.*1392A>T rs886060386
NM_198903.2(GABRG2):c.*1427C>T rs375013278
NM_198903.2(GABRG2):c.*1468A>G rs372041761
NM_198903.2(GABRG2):c.*1497C>T rs11956247
NM_198903.2(GABRG2):c.*1518A>G rs567153845
NM_198903.2(GABRG2):c.*1636T>C rs551794496
NM_198903.2(GABRG2):c.*1763A>T rs886060387
NM_198903.2(GABRG2):c.*1889C>A rs886060388
NM_198903.2(GABRG2):c.*194G>A rs758832535
NM_198903.2(GABRG2):c.*1974G>A rs150875037
NM_198903.2(GABRG2):c.*1981G>C rs886060389
NM_198903.2(GABRG2):c.*2095C>G rs138297122
NM_198903.2(GABRG2):c.*2120_*2121del rs34705786
NM_198903.2(GABRG2):c.*247T>C rs371389067
NM_198903.2(GABRG2):c.*250A>C rs886060384
NM_198903.2(GABRG2):c.*261G>A rs148001179
NM_198903.2(GABRG2):c.*32T>C rs749257839
NM_198903.2(GABRG2):c.*343A>G rs41275341
NM_198903.2(GABRG2):c.*385G>A rs185169107
NM_198903.2(GABRG2):c.*422C>T rs752382943
NM_198903.2(GABRG2):c.*441T>C rs188825588
NM_198903.2(GABRG2):c.*609C>T rs418210
NM_198903.2(GABRG2):c.*661T>A rs424740
NM_198903.2(GABRG2):c.*794A>G rs73316347
NM_198903.2(GABRG2):c.*797G>T rs118064447
NM_198903.2(GABRG2):c.-104T>G rs886060380
NM_198903.2(GABRG2):c.-114T>C rs886060379
NM_198903.2(GABRG2):c.-154C>T rs3219203
NM_198903.2(GABRG2):c.-179T>A rs886060378
NM_198903.2(GABRG2):c.-217C>G rs748771306
NM_198903.2(GABRG2):c.-241A>C rs886060377
NM_198903.2(GABRG2):c.-250C>T rs886060376
NM_198903.2(GABRG2):c.-268C>A rs886060375
NM_198903.2(GABRG2):c.-334C>T rs886060374
NM_198903.2(GABRG2):c.-4del rs771282908
NM_198903.2(GABRG2):c.-4dup rs771282908
NM_198903.2(GABRG2):c.1042+6A>G rs375294947
NM_198903.2(GABRG2):c.107+12C>T rs369466385
NM_198903.2(GABRG2):c.1292G>A (p.Arg431His) rs528036202
NM_198903.2(GABRG2):c.135C>T (p.Asp45=) rs375308385
NM_198903.2(GABRG2):c.1454G>A (p.Arg485His) rs587780341
NM_198903.2(GABRG2):c.1509G>A (p.Leu503=) rs765904792
NM_198903.2(GABRG2):c.1545G>A (p.Leu515=) rs886060383
NM_198903.2(GABRG2):c.243T>A (p.Leu81=) rs143295869
NM_198903.2(GABRG2):c.24C>A (p.Ser8Arg) rs183259247
NM_198903.2(GABRG2):c.315C>T (p.Asn105=) rs11135176
NM_198903.2(GABRG2):c.354G>A (p.Ala118=) rs61735412
NM_198903.2(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_198903.2(GABRG2):c.588C>T (p.Asn196=) rs211037
NM_198903.2(GABRG2):c.837A>G (p.Gln279=) rs78261481
NM_198903.2(GABRG2):c.888C>T (p.Ser296=) rs201672465
NM_198903.2(GABRG2):c.889+10A>G rs765703079
SCN1A, 1-BP DEL, 2528G
SCN1A, 6.5-KB DEL
SCN1A, EX21-26DEL

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.